Immunodeficiency, and Eczema

Diseases related with Immunodeficiency and Eczema

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Eczema that can help you solving undiagnosed cases.

Top matches:

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.

X-LINKED SEVERE CONGENITAL NEUTROPENIA Is also known as xln

Related symptoms:

  • Fever
  • Immunodeficiency
  • Neutropenia
  • Abnormality of the skin
  • Eczema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED SEVERE CONGENITAL NEUTROPENIA

Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY Is also known as tyrosine kinase 2 deficiency|hies with atypical mycobacteriosis, autosomal recessive|autosomal recessive hyper-ige syndrome due to tyk2 deficiency|hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive|tyk2 deficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Lymphadenopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUSCEPTIBILITY TO INFECTION DUE TO TYK2 DEFICIENCY

Other less relevant matches:

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). Genetic Heterogeneity of Hereditary ThrombocytopeniaAutosomal dominant forms of thrombocytopenia include THC2 (OMIM ), caused by mutation in the ANKRD26 (OMIM ) gene on chromosome 10; THC4 (OMIM ), caused by mutation in the CYCS gene (OMIM ) on chromosome 7; THC5 (OMIM ), caused by mutation in the ETV6 gene (OMIM ) on chromosome 12p13; and THC6 (OMIM ), caused by mutation in the SRC gene (OMIM ) on chromosome 20q12.An autosomal recessive form (THC3 ) is caused by mutation in the FYB gene (OMIM ) on chromosome 5p13.Also see {188000} for discussion of a possible form of THC caused by mutation in the MASTL gene (OMIM ) on chromosome 10.Balduini and Savoia (2012) reviewed the familial forms of thrombocytopenia and their molecular bases.

X-LINKED THROMBOCYTOPENIA WITH NORMAL PLATELETS Is also known as thrombocytopenia, x-linked, 1|xlt|thrombocytopenia, x-linked|thc

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Bruising susceptibility
  • Abnormal bleeding


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED THROMBOCYTOPENIA WITH NORMAL PLATELETS

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD ).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY Is also known as granulomatous disease, chronic, due to ncf4 deficiency|cgd, autosomal recessive cytochrome b-positive, type iii|x-linked msmd due to cybb deficiency

Related symptoms:

  • Fever
  • Diarrhea
  • Immunodeficiency
  • Skin rash
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i|neutrophil cytosol factor 1, deficiency of|soc2, deficiency of|p47-phox, deficiency of|soluble oxidase component ii, deficiency of|ncf1, deficiency of|granulomatous disease, chronic, due to ncf1 defic

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2 Is also known as ncf2, deficiency of|granulomatous disease, chronic, due to ncf2 deficiency|cgd, autosomal recessive cytochrome b-positive, type ii|neutrophil cytosol factor 2, deficiency of|p67-phox, deficiency of

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

Top 5 symptoms//phenotypes associated to Immunodeficiency and Eczema

Symptoms // Phenotype % cases
Pneumonia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Eczema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Eczematoid dermatitis Failure to thrive Lymphadenitis Hepatomegaly

Rare Symptoms - Less than 30% cases

Absence of bactericidal oxidative respiratory burst in phagocytes Lymphopenia Recurrent Burkholderia cepacia infections Recurrent Serratia marcescens infections Negative nitroblue tetrazolium reduction test Decreased activity of NADPH oxidase Recurrent Klebsiella infections Recurrent Aspergillus infections Recurrent Staphylococcus aureus infections Severe combined immunodeficiency Combined immunodeficiency Recurrent urinary tract infections Diarrhea Neutropenia Discoid lupus rash Recurrent E. coli infections Fever Liver abscess Increased IgE level Rectal abscess Inflammation of the large intestine Recurrent skin infections Recurrent bacterial skin infections Asthma Granulomatosis Recurrent bacterial infections Cellulitis Osteomyelitis Recurrent pneumonia Decreased proportion of CD8-positive T cells Perianal abscess Anemia Autoimmunity Malabsorption Bronchiolitis obliterans Perioral eczema Hemolytic anemia Recurrent otitis media Abnormal intestine morphology Autoimmune hemolytic anemia Respiratory tract infection Recurrent gastroenteritis Decrease in T cell count Bronchiolitis Perianal rash Congenital thrombocytopenia Low-grade fever Meningitis Recurrent candida infections Panhypogammaglobulinemia Recurrent mycobacterial infections Recurrent fungal infections Recurrent viral infections Chronic mucocutaneous candidiasis Monocytopenia Bruising susceptibility Congenital neutropenia Increased mean platelet volume Anisocytosis Myelodysplasia Abnormality of the skin Decreased antibody level in blood Thrombocytopenia Abnormal bleeding Recurrent aphthous stomatitis Recurrent sinopulmonary infections Recurrent sinusitis Colitis Sinusitis Skin rash Defective B cell activation Decreased T cell activation Chronic diarrhea Epistaxis Short stature Decreased mean platelet volume Intermittent thrombocytopenia Increased IgA level Joint hemorrhage Abnormality of the musculature Petechiae Lung abscess


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