Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism

Samuel P. Gotoff; Nancy B. Esterly; Emalee Gottbrath; Edwin J. Liebner; Seyed R. Lajvardi

doi:10.1016/S0022-3476(72)80015-5

Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism

Samuel P. Gotoff^*, Nancy B. Esterly, Emalee Gottbrath, Edwin J. Liebner, Seyed R. Lajvardi

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

A female infant with combined immunodeficiency disease and short-limbed dwarfism is described. Cutaneous abnormalities included redundant, scaly, thickened skin and progressive loss of hair, neither of which was consistent with the known types of ectodermal dysplasia. Generalized lymph node enlargement was present early in life, but spontaneous regression occurred prior to death. Initial biopsies of skin and lymph node showed a pronounced granulomatous process not previously observed in this syndrome; however, cultures and special stains failed to reveal the etiologic factor.

Original language	English (US)
Pages (from-to)	1010-1017
Number of pages	8
Journal	The Journal of pediatrics
Volume	80
Issue number	6
DOIs	https://doi.org/10.1016/S0022-3476(72)80015-5
State	Published - Jun 1972
Externally published	Yes

Funding

Supported by grants/tom the United States Public Health Service (AM-10318) and the Chicago and Illinois Heart Associations (C-70-14).

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(72)80015-5

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title = "Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism",

abstract = "A female infant with combined immunodeficiency disease and short-limbed dwarfism is described. Cutaneous abnormalities included redundant, scaly, thickened skin and progressive loss of hair, neither of which was consistent with the known types of ectodermal dysplasia. Generalized lymph node enlargement was present early in life, but spontaneous regression occurred prior to death. Initial biopsies of skin and lymph node showed a pronounced granulomatous process not previously observed in this syndrome; however, cultures and special stains failed to reveal the etiologic factor.",

author = "Gotoff, {Samuel P.} and Esterly, {Nancy B.} and Emalee Gottbrath and Liebner, {Edwin J.} and Lajvardi, {Seyed R.}",

note = "Funding Information: Supported by grants/tom the United States Public Health Service (AM-10318) and the Chicago and Illinois Heart Associations (C-70-14).",

year = "1972",

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doi = "10.1016/S0022-3476(72)80015-5",

language = "English (US)",

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AU - Gotoff, Samuel P.

AU - Esterly, Nancy B.

AU - Gottbrath, Emalee

AU - Liebner, Edwin J.

AU - Lajvardi, Seyed R.

N1 - Funding Information: Supported by grants/tom the United States Public Health Service (AM-10318) and the Chicago and Illinois Heart Associations (C-70-14).

PY - 1972/6

Y1 - 1972/6

N2 - A female infant with combined immunodeficiency disease and short-limbed dwarfism is described. Cutaneous abnormalities included redundant, scaly, thickened skin and progressive loss of hair, neither of which was consistent with the known types of ectodermal dysplasia. Generalized lymph node enlargement was present early in life, but spontaneous regression occurred prior to death. Initial biopsies of skin and lymph node showed a pronounced granulomatous process not previously observed in this syndrome; however, cultures and special stains failed to reveal the etiologic factor.

AB - A female infant with combined immunodeficiency disease and short-limbed dwarfism is described. Cutaneous abnormalities included redundant, scaly, thickened skin and progressive loss of hair, neither of which was consistent with the known types of ectodermal dysplasia. Generalized lymph node enlargement was present early in life, but spontaneous regression occurred prior to death. Initial biopsies of skin and lymph node showed a pronounced granulomatous process not previously observed in this syndrome; however, cultures and special stains failed to reveal the etiologic factor.

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Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism

Abstract

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ASJC Scopus subject areas

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